Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bb4d430a1146f52029d4d12e8ea943267> ?p ?o ?g. }
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- Bb4d430a1146f52029d4d12e8ea943267 hasDbXref "Orphanet:201" @default.
- Bb4d430a1146f52029d4d12e8ea943267 type Axiom @default.
- Bb4d430a1146f52029d4d12e8ea943267 annotatedProperty IAO_0000115 @default.
- Bb4d430a1146f52029d4d12e8ea943267 annotatedSource MONDO_0016063 @default.
- Bb4d430a1146f52029d4d12e8ea943267 annotatedTarget "A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group." @default.